Publications:

---

HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 545A>G; Y182C

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GC: 545A>G

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GC: 545A>G; Tyr182Cys

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss.

Molecular Therapy. Methods & Clinical Development

Bankoti, Kamakshi K; Generotti, Charles C; Hwa, Tiffany T; Wang, Lili L; O'Malley, Bert W BW; Li, Daqing D

Publication Date: 2021-06-11

Variant appearance in text: GC: Y182C

PubMed Link: 33850952

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Orphanet Journal Of Rare Diseases

Liang, Wen-Chen WC; Jong, Yuh-Jyh YJ; Wang, Chien-Hua CH; Wang, Chen-Hua CH; Tian, Xia X; Chen, Wan-Zi WZ; Kan, Tzu-Min TM; Minami, Narihiro N; Nishino, Ichizo I; Wong, Lee-Jun C LC

Publication Date: 2020-06-23

Variant appearance in text: GC: Tyr182Cys

PubMed Link: 32576226

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1445.pdf

View BVdb publication page

---

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Annals Of Clinical And Translational Neurology

Yu, Meng M; Zhu, Ying Y; Xie, Zhiying Z; Zheng, Yiming Y; Xiao, Jiangxi J; Zhang, Wei W; Nishino, Ichizo I; Yuan, Yun Y; Wang, Zhaoxia Z

Publication Date: 2019-07

Variant appearance in text: GC: 545A>G

PubMed Link: 31353864

Variant Present in the following documents:

• ACN3-6-1311.pdf

View BVdb publication page

---

The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog.

International Journal Of Molecular Sciences

Won, Sae-Young SY; Kim, Yong-Chan YC; Kim, Kiwon K; Kim, An-Dang AD; Jeong, Byung-Hoon BH

Publication Date: 2019-03-20

Variant appearance in text: GC: 545A>G

PubMed Link: 30897750

Variant Present in the following documents:

• Main text
• ijms-20-01404.pdf

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: GC: 545A>G; Tyr182Cys

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

---